A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5654270



Internal ID21602575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:20831800..20831800hg38UCSC Ensembl
chr16:20843122..20843122hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg383221
hg193221
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17089036
SamplesHG01114
Known GenesLOC81691
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5654270
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer